Etiology
Vestager ML,
Hansen ML,
Rasmussen MI,
Hahn GH,
Hyttel-Sørensen S,
Pellicer A,
Heuchan AM,
Hagmann C,
Dempsey E,
Dimitriou G,
Pichler G,
Naulaers G,
Fuchs H,
Tkaczyk J,
Mintzer J,
Fumagalli M,
Nesargi S,
Fredly S,
Szczapa T,
Gluud C,
Jakobsen JC,
Greisen G
Trials
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Knipper M,
Singer W,
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Hagberg GE,
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Garrelfs MR,
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Mancini G,
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van de Warrenburg B,
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Peters I,
Weemaes C,
van der Burg M,
Willemsen MA
Pediatr Neurol
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Szkodziak P,
Krzyżanowski J,
Krzyżanowski A,
Szkodziak F,
Woźniak S,
Czuczwar P,
Kwaśniewska A,
Paszkowski T
Arch Gynecol Obstet
2020 Sep;302(3):619-628.
Epub 2020 Jun 15
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Kim JS,
Kanjlia S,
Merabet LB,
Bedny M
J Neurosci
2017 Nov 22;37(47):11495-11504.
Epub 2017 Oct 23
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PMID: 29061700Free PMC Article
Diagnosis
Garrelfs MR,
Takada S,
Kamsteeg EJ,
Pegge S,
Mancini G,
Engelen M,
van de Warrenburg B,
Rennings A,
van Gaalen J,
Peters I,
Weemaes C,
van der Burg M,
Willemsen MA
Pediatr Neurol
2020 Dec;113:26-32.
Epub 2020 Jul 28
doi: 10.1016/j.pediatrneurol.2020.07.014.
PMID: 32980744
Szkodziak P,
Krzyżanowski J,
Krzyżanowski A,
Szkodziak F,
Woźniak S,
Czuczwar P,
Kwaśniewska A,
Paszkowski T
Arch Gynecol Obstet
2020 Sep;302(3):619-628.
Epub 2020 Jun 15
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Mahesh DM,
Jebasingh FK,
Baruah MP,
Thomas N
BMJ Case Rep
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Therapy
Vestager ML,
Hansen ML,
Rasmussen MI,
Hahn GH,
Hyttel-Sørensen S,
Pellicer A,
Heuchan AM,
Hagmann C,
Dempsey E,
Dimitriou G,
Pichler G,
Naulaers G,
Fuchs H,
Tkaczyk J,
Mintzer J,
Fumagalli M,
Nesargi S,
Fredly S,
Szczapa T,
Gluud C,
Jakobsen JC,
Greisen G
Trials
2023 Oct 28;24(1):696.
doi: 10.1186/s13063-023-07699-x.
PMID: 37898759Free PMC Article
Mahesh DM,
Jebasingh FK,
Baruah MP,
Thomas N
BMJ Case Rep
2015 Jan 9;2015
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PMID: 25576505Free PMC Article
Montoya P,
Ritter K,
Huse E,
Larbig W,
Braun C,
Töpfner S,
Lutzenberger W,
Grodd W,
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Birbaumer N
Eur J Neurosci
1998 Mar;10(3):1095-102.
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Saadah ES,
Melzack R
Cortex
1994 Sep;30(3):479-85.
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Prognosis
Vestager ML,
Hansen ML,
Rasmussen MI,
Hahn GH,
Hyttel-Sørensen S,
Pellicer A,
Heuchan AM,
Hagmann C,
Dempsey E,
Dimitriou G,
Pichler G,
Naulaers G,
Fuchs H,
Tkaczyk J,
Mintzer J,
Fumagalli M,
Nesargi S,
Fredly S,
Szczapa T,
Gluud C,
Jakobsen JC,
Greisen G
Trials
2023 Oct 28;24(1):696.
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PMID: 37898759Free PMC Article
Snijders Blok L,
Verseput J,
Rots D,
Venselaar H,
Innes AM,
Stumpel C,
Õunap K,
Reinson K,
Seaby EG,
McKee S,
Burton B,
Kim K,
van Hagen JM,
Waisfisz Q,
Joset P,
Steindl K,
Rauch A,
Li D,
Zackai EH,
Sheppard SE,
Keena B,
Hakonarson H,
Roos A,
Kohlschmidt N,
Cereda A,
Iascone M,
Rebessi E,
Kernohan KD,
Campeau PM,
Millan F,
Taylor JA,
Lochmüller H,
Higgs MR,
Goula A,
Bernhard B,
Velasco DJ,
Schmanski AA,
Stark Z,
Gallacher L,
Pais L,
Marcogliese PC,
Yamamoto S,
Raun N,
Jakub TE,
Kramer JM,
den Hoed J,
Fisher SE,
Brunner HG,
Kleefstra T
HGG Adv
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Panneman DM,
Wortmann SB,
Haaxma CA,
van Hasselt PM,
Wolf NI,
Hendriks Y,
Küsters B,
van Emst-de Vries S,
van de Westerlo E,
Koopman WJH,
Wintjes L,
van den Brandt F,
de Vries M,
Lefeber DJ,
Smeitink JAM,
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Clin Genet
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Kim JS,
Kanjlia S,
Merabet LB,
Bedny M
J Neurosci
2017 Nov 22;37(47):11495-11504.
Epub 2017 Oct 23
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PMID: 29061700Free PMC Article
Braissant O,
Henry H
J Inherit Metab Dis
2008 Apr;31(2):230-9.
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PMID: 18392746
Clinical prediction guides
Corredor B,
Solís I,
Zubicaray J,
Sevilla J,
Argente J
Front Endocrinol (Lausanne)
2024;15:1385650.
Epub 2024 Aug 19
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PMID: 39224124Free PMC Article
Vestager ML,
Hansen ML,
Rasmussen MI,
Hahn GH,
Hyttel-Sørensen S,
Pellicer A,
Heuchan AM,
Hagmann C,
Dempsey E,
Dimitriou G,
Pichler G,
Naulaers G,
Fuchs H,
Tkaczyk J,
Mintzer J,
Fumagalli M,
Nesargi S,
Fredly S,
Szczapa T,
Gluud C,
Jakobsen JC,
Greisen G
Trials
2023 Oct 28;24(1):696.
doi: 10.1186/s13063-023-07699-x.
PMID: 37898759Free PMC Article
Snijders Blok L,
Verseput J,
Rots D,
Venselaar H,
Innes AM,
Stumpel C,
Õunap K,
Reinson K,
Seaby EG,
McKee S,
Burton B,
Kim K,
van Hagen JM,
Waisfisz Q,
Joset P,
Steindl K,
Rauch A,
Li D,
Zackai EH,
Sheppard SE,
Keena B,
Hakonarson H,
Roos A,
Kohlschmidt N,
Cereda A,
Iascone M,
Rebessi E,
Kernohan KD,
Campeau PM,
Millan F,
Taylor JA,
Lochmüller H,
Higgs MR,
Goula A,
Bernhard B,
Velasco DJ,
Schmanski AA,
Stark Z,
Gallacher L,
Pais L,
Marcogliese PC,
Yamamoto S,
Raun N,
Jakub TE,
Kramer JM,
den Hoed J,
Fisher SE,
Brunner HG,
Kleefstra T
HGG Adv
2023 Jan 12;4(1):100157.
Epub 2022 Nov 1
doi: 10.1016/j.xhgg.2022.100157.
PMID: 36408368Free PMC Article
Szkodziak P,
Krzyżanowski J,
Krzyżanowski A,
Szkodziak F,
Woźniak S,
Czuczwar P,
Kwaśniewska A,
Paszkowski T
Arch Gynecol Obstet
2020 Sep;302(3):619-628.
Epub 2020 Jun 15
doi: 10.1007/s00404-020-05650-y.
PMID: 32556516Free PMC Article
Braissant O,
Henry H
J Inherit Metab Dis
2008 Apr;31(2):230-9.
Epub 2008 Apr 4
doi: 10.1007/s10545-008-0826-9.
PMID: 18392746